Gene: GJB2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.130 GeneticVariation disease LHGDN A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 18787097 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.130 GeneticVariation disease LHGDN A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 17993581 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.130 GeneticVariation disease BEFREE A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 10633135 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.130 Biomarker disease HPO